69. Integration of standards for variant oncogenicity into the CIViC data model

Somatic cancer variant oncogenicity holds great importance. Evidence demonstrating oncogenic or benign variant effects may have clinical implications. For example, in colorectal cancer, an activating KRAS mutation will preclude EGFR inhibitor treatment, but guidelines may allow EGFR administration if KRAS mutation is benign.Therefore it is clear that a rigorous method for assessing variant oncogenicity is crucial.A method exists for assessing pathogenicity of germline variants developed between ACMG and AMP, and guidelines from AMP/ASCO/CAP classifying somatic variants are widely used for therapeutic, prognostic and diagnostic classification.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: Arpad Danos, Kilannin Krysiak, Jason Saliba, Susanna Kiwala, Joshua McMichael, Adam Coffman, Erika Barnell, Kana Sheta, Nicholas Spies, Cameron Grisdale, Alex Wagner, Malachi Griffith, Obi L. Griffith Source Type: research